JUAN J
VILCHEZ PADILLA
TITULAR DE UNIVERSIDAD
![Foto de Miguel Angel](/img/nophoto.png)
Miguel Angel
Martín Casanueva
Publicaciones en las que colabora con Miguel Angel Martín Casanueva (3)
2022
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A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
Neuropathology and Applied Neurobiology, Vol. 48, Núm. 5
2020
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646
2000
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Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.
Human mutation, Vol. 15, Núm. 3, pp. 294